A

Lachman, Ralph S.

doi:10.1016/b978-0-323-01931-6.50009-8

Cited by 6 publications

(7 citation statements)

References 1,081 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In fact, the ubiquitous character of the cilium12 makes it easier to assume a single mutation given a complex, pleiotropic and unexpected phenotype. Despite the fact that preaxial polydactyly has not been reported in Verma-Naumoff SRP, several authors include SRP types I and III as a single type and refer to preaxial polydactyly as an occasional finding 1 2 26. Moreover, preaxial polydactyly was also described by Majewski et al 25 in a newborn (case I) presenting a phenotype compatible with Jeune dysplasia.…”

Section: Discussionmentioning

confidence: 99%

“…The proposed international classification is not a consensus, however, and, more commonly, the lethal group of SRP includes the following types: type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860) 2 3. In addition, several phenotypes with overlapping features have remained unclassifiable 3–5…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Cavalcanti

Huber

Sang

et al. 2009

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Cavalcanti

Huber

Sang

et al. 2009

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…Abnormalities may be either isolated or may be accompanied by other defects, particularly in genetic disorders or in chromosomal syndromes [39]. The prenatal diagnosis of musculoskeletal anomalies should be based on information assembled from imaging combined with biochemical and genetic workups [40, 41].…”

Section: Complex Defects Of the Musculoskeletal Systemmentioning

confidence: 99%

The skeleton and musculature on foetal MRI

Nemec

Krakow

et al. 2011

Insights Imaging

View full text Add to dashboard Cite

BackgroundMagnetic resonance imaging (MRI) is used as an adjunct to ultrasound in prenatal imaging, the latter being the standard technique in obstetrical medicine.MethodsInitial results demonstrate the ability to visualise the foetal skeleton and muscles on MRI, and highlight the potentially useful applications for foetal MRI, which has significantly profited from innovations in sequence technology. Echoplanar imaging, thick-slab T2-weighted (w) imaging, and dynamic sequences are techniques complementary to classical T2-w imaging.ResultsRecent study data indicate that foetal MRI may be useful in the imaging of spinal dysraphism and in differentiating between isolated and complex skeletal deformities with associated congenital malformations, which might have an impact on pre- and postnatal management.ConclusionMore research and technical refinement will be necessary to investigate normal human skeletal development and to identify MR imaging characteristics of skeletal abnormalities.

show abstract

“…The main radiological features are severe platyspondyly, short long bones including squared metacarpals, delayed epiphyseal ossification, and metaphyseal flaring and cupping (7–10). Square iliac wings with horizontal acetabular roof and ossification defect at the skull base are also seen (11). …”

Section: Introductionmentioning

confidence: 99%

Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy

et al. 2015

View full text Add to dashboard Cite

We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping, and postnatal micromelia. Respiratory compromise, delayed ambulation, and progressive lower extremity deformities are described. The severity of findings is variable. Renal phosphate wasting is associated with severe bone demineralization and a more severe phenotype. This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). Surgical management for lower extremity deformities associated with OPS is also reviewed.Level of Evidence: IV Case series

show abstract

A

Cited by 6 publications

References 1,081 publications

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

The skeleton and musculature on foetal MRI

Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy

Contact Info

Product

Resources

About